HLA-B7 (B7) is an HLA-Bserotype. The serotype identifies the more common HLA-B*07 gene products.[1] (For terminology help see: HLA-serotype tutorial) B7, previously HL-A7, was one of the first 'HL-A' antigens recognized, largely because of the frequency of B*0702 in Northern and Western Europe and the United States. B7 is found in two major haplotypes in Europe, where it reaches peak frequency in Ireland. One haplotype A3-B7-DR15-DQ1 can be found over a vast region and is in apparent selective disequilibrium. B7 is a risk factor for cervical cancer, sarcoidosis, and early-onset spondylarthropathies.[citation needed]
Serology
B7 serotype recognition of Some HLA B*07 allele-group gene products[2]
HLA-B7 along with HLA-DQ8 increased risk for cervical cancer in Costa Rican [4] and South Asian women[5]
Sarcoidosis
A weak relationship between HLA-B7 and sarcoidosis has been known for 30+ years, [6] yet has not consistently been reproducible in all studies however. A common serologically defined haplotype in Europeans is HLA A3-Cw7-B7-DR15-DQ6.2 which is composed of alleles A*0301:Cw*0701:B*0702:DRB1*1501:DQA1*0102:DQB1*0602. In persistent sarcoidosis this haplotype appears elevated, further study eliminated risk contributed by A3-Cw7 and DQ6.2 indicating B7-DR15 haplotype contains risk of disease (OR = 2.5). Corresponding region of chromosome 6 contains nearly one million nucleotides thus these genes, or another closely linked gene could be involved in such massing of inflammatory granulomata.[7]
Juvenile Spondylarthropathies
In Croatian children, two HLA-B27 alleles were found associated with disease, B*2702, B*2705.[8] The study showed also B*0702 in cooperation with B*27, the HLA-B*07/B*27 combination with D6S273-134 genomic marker allele and was found not to be the result of linkage disequilibrium. B*2705 was found to be dominant allele associated.
Haemochromatosis
The HFE gene responsible for haemochromatosis is distal on chromosome 6 from HLA-A and more so from HLA-B, the distance suffices (3 million nucleotides) to allow equilibration of the loci. Nonetheless, a linkage has been found between A3-B7 haplotype and haemochromatosis. The region is almost 1.4 million nucleotides in length and contains many other genes that could be involved.
A more recent study looked at a number of linked gene-alleles and found I82-2:D6S265-1:HLA-A3:D6S128-2:HLA-F1:D6S105-8 was constantly associated while B7 appeared beyond the haplotype linked to disease.[9]
Covid-19
In october 2021, a team of researcher from Centre hospitalier universitaire Sainte-Justine in Montreal, Canada, announced the discovery of HLA-B7 genetic marker as a potential cause for severe form of covid-19. While they noted that more work will be necessary to confirm this discovery, they found that individuals carrying the HLA-B7 genetic marker, which represents 35% of the population worldwide, are more likely to have a less effective immune response to covid-19.[10][11]
References
^Marsh, S. G.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Fernández-Viña, M.; Geraghty, D. E.; Holdsworth, R.; Hurley, C. K.; Lau, M.; Lee, K. W.; Mach, B.; Maiers, M.; Mayr, W. R.; Müller, C. R.; Parham, P.; Petersdorf, E. W.; Sasazuki, T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.; Tiercy, J. M.; Trowsdale, J. (2010). "Nomenclature for factors of the HLA system, 2010". Tissue Antigens. 75 (4): 291–455. doi:10.1111/j.1399-0039.2010.01466.x. PMC2848993. PMID20356336.
^Bhattacharya P, Sengupta S (October 2007). "Predisposition to HPV16/18-related cervical cancer because of proline homozygosity at codon 72 of p53 among Indian women is influenced by HLA-B*07 and homozygosity of HLA-DQB1*03". Tissue Antigens. 70 (4): 283–93. doi:10.1111/j.1399-0039.2007.00894.x. PMID17767549.
^Rybicki BA, Iannuzzi MC (March 2004). "Sarcoidosis and human leukocyte antigen class I and II genes: it takes two to tango?". Am. J. Respir. Crit. Care Med. 169 (6): 665–6. doi:10.1164/rccm.2401005. PMID15003948.
^Harjacek M, Margetić T, Kerhin-Brkljacić V, Martinez N, Grubić Z (2008). "HLA-B*27/HLA-B*07 in combination with D6S273-134 allele is associated with increased susceptibility to juvenile spondyloarthropathies". Clin. Exp. Rheumatol. 26 (3): 498–504. PMID18578977.